AMDD
MCID: ACR096
MIFTS: 21

Acromesomelic Dysplasia, Demirhan Type (AMDD)

Categories: Genetic diseases

Aliases & Classifications for Acromesomelic Dysplasia, Demirhan Type

MalaCards integrated aliases for Acromesomelic Dysplasia, Demirhan Type:

Name: Acromesomelic Dysplasia, Demirhan Type 58 76 38 30 6
Chondrodysplasia, Acromesomelic, with or Without Genital Anomalies 58 76
Amdd 58 76
Chondrodysplasia, Acromesomelic, with Genital Anomalies 41
Acromesomelic Chondrodysplasia, with Genital Anomalies 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
allelic to brachydactyly, type a2


HPO:

33
acromesomelic dysplasia, demirhan type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Acromesomelic Dysplasia, Demirhan Type

UniProtKB/Swiss-Prot : 76 Acromesomelic dysplasia, Demirhan type: A form of chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and 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). AMDD inheritance is autosomal recessive.

MalaCards based summary : Acromesomelic Dysplasia, Demirhan Type, also known as chondrodysplasia, acromesomelic, with or without genital anomalies, is related to chondrodysplasia acromesomelic with genital anomalies. An important gene associated with Acromesomelic Dysplasia, Demirhan Type is BMPR1B (Bone Morphogenetic Protein Receptor Type 1B), and among its related pathways/superpathways is TGF-beta signaling pathway. Affiliated tissues include bone, uterus and ovary, and related phenotypes are primary amenorrhea and short toe

Description from OMIM: 609441

Related Diseases for Acromesomelic Dysplasia, Demirhan Type

Diseases related to Acromesomelic Dysplasia, Demirhan Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chondrodysplasia acromesomelic with genital anomalies 12.5

Symptoms & Phenotypes for Acromesomelic Dysplasia, Demirhan Type

Human phenotypes related to Acromesomelic Dysplasia, Demirhan Type:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 primary amenorrhea 33 HP:0000786
2 short toe 33 HP:0001831
3 talipes equinovarus 33 HP:0001762
4 hypergonadotropic hypogonadism 33 HP:0000815
5 brachydactyly 33 HP:0001156
6 disproportionate short-limb short stature 33 HP:0008873
7 short finger 33 HP:0009381
8 hypoplasia of the ulna 33 HP:0003022
9 tarsal synostosis 33 HP:0008368
10 broad foot 33 HP:0001769
11 hypoplasia of the uterus 33 HP:0000013
12 aplasia/hypoplasia involving the metacarpal bones 33 HP:0005914
13 fibular aplasia 33 HP:0002990
14 short phalanx of finger 33 HP:0009803
15 radial deviation of finger 33 HP:0009466
16 short femoral neck 33 HP:0100864
17 carpal synostosis 33 HP:0009702
18 aplasia of the proximal phalanges of the hand 33 HP:0010242
19 widened proximal tibial metaphyses 33 HP:0005028

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
primary amenorrhea
hypergonadotropic hypogonadism

Skeletal Hands:
radially deviated fingers
carpal bone fusion
severe brachydactyly
hypoplastic phalanges (fingers 2-5)
absent proximal phalanges (finger 2)
more
Skeletal Pelvis:
short femoral necks

Genitourinary Internal Genitalia Female:
hypoplastic uterus (in some patients)
absent ovaries (in some patients)

Skeletal Limbs:
fibular aplasia
short ulna
widened proximal tibial metaphyses

Skeletal Feet:
clubfeet
short toes
tarsal bone fusion
small broad feet

Growth Height:
short limb dwarfism, disproportionate

Clinical features from OMIM:

609441

Drugs & Therapeutics for Acromesomelic Dysplasia, Demirhan Type

Search Clinical Trials , NIH Clinical Center for Acromesomelic Dysplasia, Demirhan Type

Genetic Tests for Acromesomelic Dysplasia, Demirhan Type

Genetic tests related to Acromesomelic Dysplasia, Demirhan Type:

# Genetic test Affiliating Genes
1 Acromesomelic Dysplasia, Demirhan Type 30 BMPR1B

Anatomical Context for Acromesomelic Dysplasia, Demirhan Type

MalaCards organs/tissues related to Acromesomelic Dysplasia, Demirhan Type:

42
Bone, Uterus, Ovary

Publications for Acromesomelic Dysplasia, Demirhan Type

Articles related to Acromesomelic Dysplasia, Demirhan Type:

# Title Authors Year
1
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. ( 15805157 )
2005

Variations for Acromesomelic Dysplasia, Demirhan Type

UniProtKB/Swiss-Prot genetic disease variations for Acromesomelic Dysplasia, Demirhan Type:

76
# Symbol AA change Variation ID SNP ID
1 BMPR1B p.Cys53Arg VAR_075521 rs863225041

ClinVar genetic disease variations for Acromesomelic Dysplasia, Demirhan Type:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR1B NM_001203.2(BMPR1B): c.157T> C (p.Cys53Arg) single nucleotide variant Pathogenic rs863225041 GRCh37 Chromosome 4, 96035884: 96035884
2 BMPR1B NM_001203.2(BMPR1B): c.157T> C (p.Cys53Arg) single nucleotide variant Pathogenic rs863225041 GRCh38 Chromosome 4, 95114733: 95114733
3 BMPR1B NM_001256794.1(BMPR1B): c.657G> A (p.Trp219Ter) single nucleotide variant Pathogenic rs863225042 GRCh37 Chromosome 4, 96051084: 96051084
4 BMPR1B NM_001256794.1(BMPR1B): c.657G> A (p.Trp219Ter) single nucleotide variant Pathogenic rs863225042 GRCh38 Chromosome 4, 95129933: 95129933
5 BMPR1B NM_001203.2(BMPR1B): c.91C> T (p.Arg31Cys) single nucleotide variant Pathogenic rs745854387 GRCh38 Chromosome 4, 95104515: 95104515
6 BMPR1B NM_001203.2(BMPR1B): c.91C> T (p.Arg31Cys) single nucleotide variant Pathogenic rs745854387 GRCh37 Chromosome 4, 96025666: 96025666
7 BMPR1B NM_001203.2(BMPR1B): c.361_368delGGACCTAT (p.Gly121Thrfs) deletion Pathogenic rs863223287 GRCh38 Chromosome 4, 95123821: 95123828
8 BMPR1B NM_001203.2(BMPR1B): c.361_368delGGACCTAT (p.Gly121Thrfs) deletion Pathogenic rs863223287 GRCh37 Chromosome 4, 96044972: 96044979
9 BMPR1B NM_001203.2(BMPR1B): c.705C> T (p.Thr235=) single nucleotide variant Benign/Likely benign rs56083112 GRCh38 Chromosome 4, 95129981: 95129981
10 BMPR1B NM_001203.2(BMPR1B): c.705C> T (p.Thr235=) single nucleotide variant Benign/Likely benign rs56083112 GRCh37 Chromosome 4, 96051132: 96051132
11 BMPR1B NM_001203.2(BMPR1B): c.*141C> T single nucleotide variant Benign rs1434536 GRCh38 Chromosome 4, 95154814: 95154814
12 BMPR1B NM_001203.2(BMPR1B): c.*141C> T single nucleotide variant Benign rs1434536 GRCh37 Chromosome 4, 96075965: 96075965
13 BMPR1B NM_001203.2(BMPR1B): c.1112G> A (p.Arg371Gln) single nucleotide variant Uncertain significance rs34970181 GRCh37 Chromosome 4, 96069934: 96069934
14 BMPR1B NM_001203.2(BMPR1B): c.1112G> A (p.Arg371Gln) single nucleotide variant Uncertain significance rs34970181 GRCh38 Chromosome 4, 95148783: 95148783
15 BMPR1B NM_001203.2(BMPR1B): c.640C> A (p.Arg214Ser) single nucleotide variant Pathogenic rs1553941890 GRCh37 Chromosome 4, 96051067: 96051067
16 BMPR1B NM_001203.2(BMPR1B): c.640C> A (p.Arg214Ser) single nucleotide variant Pathogenic rs1553941890 GRCh38 Chromosome 4, 95129916: 95129916
17 BMPR1B NM_001203.2(BMPR1B): c.430T> C (p.Leu144=) single nucleotide variant Likely benign rs55980670 GRCh38 Chromosome 4, 95123890: 95123890
18 BMPR1B NM_001203.2(BMPR1B): c.430T> C (p.Leu144=) single nucleotide variant Likely benign rs55980670 GRCh37 Chromosome 4, 96045041: 96045041
19 BMPR1B NM_001203.2(BMPR1B): c.300C> T (p.Asn100=) single nucleotide variant Likely benign rs140499888 GRCh37 Chromosome 4, 96036889: 96036889
20 BMPR1B NM_001203.2(BMPR1B): c.300C> T (p.Asn100=) single nucleotide variant Likely benign rs140499888 GRCh38 Chromosome 4, 95115738: 95115738

Expression for Acromesomelic Dysplasia, Demirhan Type

Search GEO for disease gene expression data for Acromesomelic Dysplasia, Demirhan Type.

Pathways for Acromesomelic Dysplasia, Demirhan Type

Pathways related to Acromesomelic Dysplasia, Demirhan Type according to KEGG:

38
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

GO Terms for Acromesomelic Dysplasia, Demirhan Type

Sources for Acromesomelic Dysplasia, Demirhan Type

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75 UMLS via Orphanet
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