Network for disease Brachydactyly [15 proteins and 19 interactions]

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Brachydactyly

A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short.

Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
Not Classified)
GDF5 Growth/differentiation factor 5 P43026 link
R399C
IHH Indian hedgehog protein Q14623 link
D100E
D100N
E95K
E131K
BMPR1B Bone morphogenetic protein receptor type-1B O00238 link
I200K
R486Q
R486W
GDF5 Growth/differentiation factor 5 P43026 link
L441P
R380Q
NOG Noggin Q13253 link
R167G
P187S
P35A
P35S
A36P
E48K
GDF5 Growth/differentiation factor 5 P43026 link
M173V
HOXD13 Homeobox protein Hox-D13 P35453 link
S316C
HOXD13 Homeobox protein Hox-D13 P35453 link
S316C
I322L
PTHLH Parathyroid hormone-related protein P12272 link
L44P
L60P

A disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles.

Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
Not Classified)
IHH Indian hedgehog protein Q14623 link
V190A
P46L

An autosomal recessive acromesomelic chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbsand hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDG is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet.

Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
Not Classified)
GDF5 Growth/differentiation factor 5 P43026 link
C400Y

Severe skeletal dysplasia.

Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
Not Classified)
PTH1R Parathyroid hormone/parathyroid hormone-related peptide receptor Q03431 link
P132L

Autosomal dominant cancer predisposition syndrome associated with elevated risk for tumors of the breast, thyroid and skin. The predominant phenotype for CD is multiple hamartoma syndrome, in many organ systems including the breast (70% of CD patients), thyroid (40- 60%), skin, CNS (40%), gastrointestinal tract. Affected individuals are at an increased risk of both breast and thyroid cancers. Trichilemmomas (benign tumors of the hair follicle infundibulum), and mucocutaneous papillomatosis (99%) are hallmarks of CD.

Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
Not Classified)
BMPR1A Bone morphogenetic protein receptor type-1A P36894 link
A338D

Rare autosomal recessive condition characterized by absence of the fibulae and severe acromesomelic limb shortening with small, non- functional toes. Although milder, the phenotype resembles the autosomal recessive Hunter-Thompson and Grebe types of acromesomelic chondrodysplasia.

Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
Not Classified)
GDF5 Growth/differentiation factor 5 P43026 link
L441P
P436T
S439T
H440L
R378Q

A condition characterized by multiple formation of enchondromas, benign neoplasms derived from mesodermal cells that form cartilage. Enchondromas remain within the substance of a cartilage or bone. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma.

Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
Not Classified)
PTH1R Parathyroid hormone/parathyroid hormone-related peptide receptor Q03431 link
R150C

A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.

Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
NC)
CDON Cell adhesion molecule-related/down-regulated by oncogenes Q4KMG0 link
T684S
P689A
V691M
V780E
T790A
S940R

JP/HHT syndrome phenotype consists of the coexistence of juvenile polyposis (JIP) and hereditary hemorrhagic telangiectasia (HHT) [MIM:187300] in a single individual. JIP and HHT are autosomal dominant disorders with distinct and non-overlapping clinical features. The former, an inherited gastrointestinal malignancy predisposition, is caused by mutations in SMAD4 or BMPR1A, and the latter is a vascular malformation disorder caused by mutations in ENG or ACVRL1. All four genes encode proteins involved in the transforming-growth-factor-signaling pathway. Although there are reports of patients and families with phenotypes of both disorders combined, the genetic etiology of this association is unknown.

Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
NC)
BMPR1A Bone morphogenetic protein receptor type-1A P36894 link
C82Y
C376Y
M470T
C124R
R443C
Y62D
C130R

Rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones.

Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
NC)
PTH1R Parathyroid hormone/parathyroid hormone-related peptide receptor Q03431 link
H223R
T410P
T410R
I458R

A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism.

Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
NC)
NOG Noggin Q13253 link
W217G
C232W
GDF5 Growth/differentiation factor 5 P43026 link
R438L
S475N

A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial PPH1 is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.

Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
NC)
BMPR2 Bone morphogenetic protein receptor type-2 Q13873 link
C60Y
C118W
C347Y
C420R
C483R
Q82H
C117Y
C123R
C123S
D485G
R491Q
R491W
G182D
K512T
N519K
R899P

Characterized by the hereditary absence of the proximal interphalangeal (PIP) joints (Cushing symphalangism). Severity of PIP joint involvement diminishes towards the radial side. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conducive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone.

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Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
NC)
GDF5 Growth/differentiation factor 5 P43026 link
R438L
E491K
L373R
NOG Noggin Q13253 link
C184Y
G189C
W205C
P35R
P35S
I220N
Y222C
Y222D
P223L

Syndactyly is an autosomal dominant trait and is the most common congenital anomaly of the hand or foot. It is marked by persistence of the webbing between adjacent digits, so they are more or less completely attached. In this type there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected.

Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
NC)
HOXD13 Homeobox protein Hox-D13 P35453 link
Q325R

Limb malformation that shows a characteristic manifestation in both hands and feet. This condition is inherited as an autosomal dominant trait with reduced penetrance.

Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
NC)
HOXD13 Homeobox protein Hox-D13 P35453 link
R306W

Autosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families.

Phenotype Protein Mutations (
Buried,
Surf.,
Int.,
NC)
NOG Noggin Q13253 link
P35R
R204L
Y222C

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