MCID: MCR327
MIFTS: 18

Microcephaly, Short Stature, and Limb Abnormalities

Categories: Genetic diseases

Aliases & Classifications for Microcephaly, Short Stature, and Limb Abnormalities

MalaCards integrated aliases for Microcephaly, Short Stature, and Limb Abnormalities:

Name: Microcephaly, Short Stature, and Limb Abnormalities 57 75 29 6
Missla 57 75
Microcephaly, Short Stature, Limb Abnormalities 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in utero


Classifications:



External Ids:

OMIM 57 617604

Summaries for Microcephaly, Short Stature, and Limb Abnormalities

OMIM : 57 MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017). (617604)

MalaCards based summary : Microcephaly, Short Stature, and Limb Abnormalities, is also known as missla. An important gene associated with Microcephaly, Short Stature, and Limb Abnormalities is DONSON (Downstream Neighbor Of SON). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 75 Microcephaly, short stature, and limb abnormalities: An autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Mild intellectual disability and developmental delay is observed in some patients.

Related Diseases for Microcephaly, Short Stature, and Limb Abnormalities

Symptoms & Phenotypes for Microcephaly, Short Stature, and Limb Abnormalities

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
intrauterine growth retardation

Skeletal Limbs:
radioulnar synostosis
mesomelia
radial head dislocation
hypoplastic radius
elbow subluxation
more
Skeletal:
delayed bone age

Neurologic Central Nervous System:
intellectual disability, mild (in some patients)
delayed development (in some patients)
simplified gyral pattern (in some patients)
some patients have normal development
decreased cerebral cortical size

Skin Nails Hair Skin:
pigmentary abnormalities (in some patients)

Head And Neck Head:
microcephaly (-2.4 to -10.7 sd)

Skeletal Hands:
brachydactyly
fifth finger clinodactyly
short metacarpals
short carpals
thumb dysplasia

Head And Neck Nose:
beaked nose

Head And Neck Eyes:
upslanting palpebral fissures

Chest Ribs Sternum Clavicles And Scapulae:
rib abnormalities

Growth Height:
short stature (-1.2 to -5 sd, 1 pt -8.4 sd)


Clinical features from OMIM:

617604

Drugs & Therapeutics for Microcephaly, Short Stature, and Limb Abnormalities

Search Clinical Trials , NIH Clinical Center for Microcephaly, Short Stature, and Limb Abnormalities

Genetic Tests for Microcephaly, Short Stature, and Limb Abnormalities

Genetic tests related to Microcephaly, Short Stature, and Limb Abnormalities:

# Genetic test Affiliating Genes
1 Microcephaly, Short Stature, and Limb Abnormalities 29

Anatomical Context for Microcephaly, Short Stature, and Limb Abnormalities

MalaCards organs/tissues related to Microcephaly, Short Stature, and Limb Abnormalities:

41
Bone

Publications for Microcephaly, Short Stature, and Limb Abnormalities

Variations for Microcephaly, Short Stature, and Limb Abnormalities

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly, Short Stature, and Limb Abnormalities:

75
# Symbol AA change Variation ID SNP ID
1 DONSON p.Cys278Arg VAR_079331
2 DONSON p.Tyr282Cys VAR_079332
3 DONSON p.Phe292Leu VAR_079333 rs779803447
4 DONSON p.Pro433Ser VAR_079338
5 DONSON p.Met446Thr VAR_079339
6 DONSON p.Glu504Lys VAR_079341 rs374688527

ClinVar genetic disease variations for Microcephaly, Short Stature, and Limb Abnormalities:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 DONSON NM_017613.3(DONSON): c.1047-9A> G single nucleotide variant Pathogenic rs779149681 GRCh38 Chromosome 21, 33582064: 33582064
2 DONSON NM_017613.3(DONSON): c.1047-9A> G single nucleotide variant Pathogenic rs779149681 GRCh37 Chromosome 21, 34954370: 34954370
3 DONSON NM_017613.3(DONSON): c.1337T> C (p.Met446Thr) single nucleotide variant Pathogenic rs1135401959 GRCh37 Chromosome 21, 34953621: 34953621
4 DONSON NM_017613.3(DONSON): c.1337T> C (p.Met446Thr) single nucleotide variant Pathogenic rs1135401959 GRCh38 Chromosome 21, 33581315: 33581315
5 DONSON NM_017613.3(DONSON): c.786-22A> G single nucleotide variant Pathogenic rs1135401960 GRCh37 Chromosome 21, 34955994: 34955994
6 DONSON NM_017613.3(DONSON): c.786-22A> G single nucleotide variant Pathogenic rs1135401960 GRCh38 Chromosome 21, 33583688: 33583688
7 DONSON NM_017613.3(DONSON): c.786-33A> G single nucleotide variant no interpretation for the single variant rs192585552 GRCh37 Chromosome 21, 34956005: 34956005
8 DONSON NM_017613.3(DONSON): c.786-33A> G single nucleotide variant no interpretation for the single variant rs192585552 GRCh38 Chromosome 21, 33583699: 33583699
9 DONSON NM_017613.3(DONSON): c.1251_1256delCTCTAA (p.Asn417_Ser418del) deletion Pathogenic rs1135401961 GRCh38 Chromosome 21, 33581396: 33581401
10 DONSON NM_017613.3(DONSON): c.1251_1256delCTCTAA (p.Asn417_Ser418del) deletion Pathogenic rs1135401961 GRCh37 Chromosome 21, 34953702: 34953707
11 DONSON NM_017613.3(DONSON): c.1282C> T (p.Gln428Ter) single nucleotide variant Pathogenic rs993687029 GRCh38 Chromosome 21, 33581370: 33581370
12 DONSON NM_017613.3(DONSON): c.1282C> T (p.Gln428Ter) single nucleotide variant Pathogenic rs993687029 GRCh37 Chromosome 21, 34953676: 34953676
13 DONSON NM_017613.3(DONSON): c.876C> G (p.Phe292Leu) single nucleotide variant Pathogenic rs779803447 GRCh37 Chromosome 21, 34955882: 34955882
14 DONSON NM_017613.3(DONSON): c.876C> G (p.Phe292Leu) single nucleotide variant Pathogenic rs779803447 GRCh38 Chromosome 21, 33583576: 33583576
15 DONSON NM_017613.3(DONSON): c.1466A> C (p.Lys489Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs146664036 GRCh38 Chromosome 21, 33579447: 33579447
16 DONSON NM_017613.3(DONSON): c.1466A> C (p.Lys489Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs146664036 GRCh37 Chromosome 21, 34951753: 34951753
17 DONSON NM_017613.3(DONSON): c.82A> C (p.Ser28Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs768071555 GRCh38 Chromosome 21, 33588560: 33588560
18 DONSON NM_017613.3(DONSON): c.82A> C (p.Ser28Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs768071555 GRCh37 Chromosome 21, 34960866: 34960866
19 DONSON NM_017613.3(DONSON): c.683G> A (p.Trp228Ter) single nucleotide variant Pathogenic rs777061964 GRCh37 Chromosome 21, 34956998: 34956998
20 DONSON NM_017613.3(DONSON): c.683G> A (p.Trp228Ter) single nucleotide variant Pathogenic rs777061964 GRCh38 Chromosome 21, 33584692: 33584692

Expression for Microcephaly, Short Stature, and Limb Abnormalities

Search GEO for disease gene expression data for Microcephaly, Short Stature, and Limb Abnormalities.

Pathways for Microcephaly, Short Stature, and Limb Abnormalities

GO Terms for Microcephaly, Short Stature, and Limb Abnormalities

Sources for Microcephaly, Short Stature, and Limb Abnormalities

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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