MCID: ACR096
MIFTS: 21

Acromesomelic Dysplasia, Demirhan Type

Categories: Genetic diseases

Aliases & Classifications for Acromesomelic Dysplasia, Demirhan Type

MalaCards integrated aliases for Acromesomelic Dysplasia, Demirhan Type:

Name: Acromesomelic Dysplasia, Demirhan Type 57 75 29 6
Chondrodysplasia, Acromesomelic, with or Without Genital Anomalies 57 75
Amdd 57 75
Chondrodysplasia, Acromesomelic, with Genital Anomalies 40
Acromesomelic Chondrodysplasia, with Genital Anomalies 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to brachydactyly, type a2


HPO:

32
acromesomelic dysplasia, demirhan type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Acromesomelic Dysplasia, Demirhan Type

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include bone, uterus and ovary, and related phenotypes are hypoplasia of the uterus and primary amenorrhea

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 12.3

Symptoms & Phenotypes for Acromesomelic Dysplasia, Demirhan Type

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Acromesomelic Dysplasia, Demirhan Type:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the uterus 32 HP:0000013
2 primary amenorrhea 32 HP:0000786
3 hypergonadotropic hypogonadism 32 HP:0000815
4 talipes equinovarus 32 HP:0001762
5 broad foot 32 HP:0001769
6 short toe 32 HP:0001831
7 fibular aplasia 32 HP:0002990
8 hypoplasia of the ulna 32 HP:0003022
9 widened proximal tibial metaphyses 32 HP:0005028
10 aplasia/hypoplasia involving the metacarpal bones 32 HP:0005914
11 tarsal synostosis 32 HP:0008368
12 disproportionate short-limb short stature 32 HP:0008873
13 short finger 32 HP:0009381
14 radial deviation of finger 32 HP:0009466
15 carpal synostosis 32 HP:0009702
16 short phalanx of finger 32 HP:0009803
17 aplasia of the proximal phalanges of the hand 32 HP:0010242
18 short femoral neck 32 HP:0100864

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 29 BMPR1B

Anatomical Context for Acromesomelic Dysplasia, Demirhan Type

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

41
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:

75
# 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 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR1B NM_001203.2(BMPR1B): c.361_368delGGACCTAT (p.Gly121Thrfs) deletion Pathogenic rs863223287 GRCh38 Chromosome 4, 95123821: 95123828
2 BMPR1B NM_001203.2(BMPR1B): c.361_368delGGACCTAT (p.Gly121Thrfs) deletion Pathogenic rs863223287 GRCh37 Chromosome 4, 96044972: 96044979
3 BMPR1B NM_001203.2(BMPR1B): c.157T> C (p.Cys53Arg) single nucleotide variant Pathogenic rs863225041 GRCh37 Chromosome 4, 96035884: 96035884
4 BMPR1B NM_001203.2(BMPR1B): c.157T> C (p.Cys53Arg) single nucleotide variant Pathogenic rs863225041 GRCh38 Chromosome 4, 95114733: 95114733
5 BMPR1B NM_001256794.1(BMPR1B): c.657G> A (p.Trp219Ter) single nucleotide variant Pathogenic rs863225042 GRCh37 Chromosome 4, 96051084: 96051084
6 BMPR1B NM_001256794.1(BMPR1B): c.657G> A (p.Trp219Ter) single nucleotide variant Pathogenic rs863225042 GRCh38 Chromosome 4, 95129933: 95129933
7 BMPR1B NM_001203.2(BMPR1B): c.91C> T (p.Arg31Cys) single nucleotide variant Pathogenic rs745854387 GRCh38 Chromosome 4, 95104515: 95104515
8 BMPR1B NM_001203.2(BMPR1B): c.91C> T (p.Arg31Cys) single nucleotide variant Pathogenic rs745854387 GRCh37 Chromosome 4, 96025666: 96025666
9 BMPR1B NM_001203.2(BMPR1B): c.705C> T (p.Thr235=) single nucleotide variant Benign/Likely benign rs56083112 GRCh37 Chromosome 4, 96051132: 96051132
10 BMPR1B NM_001203.2(BMPR1B): c.705C> T (p.Thr235=) single nucleotide variant Benign/Likely benign rs56083112 GRCh38 Chromosome 4, 95129981: 95129981
11 BMPR1B NM_001203.2(BMPR1B): c.*141C> T single nucleotide variant Benign rs1434536 GRCh37 Chromosome 4, 96075965: 96075965
12 BMPR1B NM_001203.2(BMPR1B): c.*141C> T single nucleotide variant Benign rs1434536 GRCh38 Chromosome 4, 95154814: 95154814
13 BMPR1B NM_001203.2(BMPR1B): c.640C> A (p.Arg214Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 96051067: 96051067
14 BMPR1B NM_001203.2(BMPR1B): c.640C> A (p.Arg214Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 95129916: 95129916
15 BMPR1B NM_001203.2(BMPR1B): c.430T> C (p.Leu144=) single nucleotide variant Likely benign rs55980670 GRCh38 Chromosome 4, 95123890: 95123890
16 BMPR1B NM_001203.2(BMPR1B): c.430T> C (p.Leu144=) single nucleotide variant Likely benign rs55980670 GRCh37 Chromosome 4, 96045041: 96045041
17 BMPR1B NM_001203.2(BMPR1B): c.300C> T (p.Asn100=) single nucleotide variant Likely benign rs140499888 GRCh38 Chromosome 4, 95115738: 95115738
18 BMPR1B NM_001203.2(BMPR1B): c.300C> T (p.Asn100=) single nucleotide variant Likely benign rs140499888 GRCh37 Chromosome 4, 96036889: 96036889

Expression for Acromesomelic Dysplasia, Demirhan Type

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

Pathways for Acromesomelic Dysplasia, Demirhan Type

GO Terms for Acromesomelic Dysplasia, Demirhan Type

Sources for Acromesomelic Dysplasia, Demirhan Type

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