MCID: MCR183
MIFTS: 29

Microcephaly-Capillary Malformation Syndrome

Categories: Genetic diseases, Neuronal diseases, Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microcephaly-Capillary Malformation Syndrome

MalaCards integrated aliases for Microcephaly-Capillary Malformation Syndrome:

Name: Microcephaly-Capillary Malformation Syndrome 57 24 25 59 75 37 29 6 40 73
Mic-Cap Syndrome 24 25 59
Miccap 57 75
Microcephaly-Cutaneous Capillary Malformation Syndrome 59
Mic-Cm Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
microcephaly-capillary malformation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
capillary malformation are apparent at birth
seizures usually occur in the first months of life
one patient was less severely affected
variable facial dysmorphic features
variable cardiac defects


HPO:

32
microcephaly-capillary malformation syndrome:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly-Capillary Malformation Syndrome

OMIM : 57 The microcephaly-capillary malformation syndrome is a congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects (summary by Carter et al., 2011 and Mirzaa et al., 2011). (614261)

MalaCards based summary : Microcephaly-Capillary Malformation Syndrome, also known as mic-cap syndrome, is related to microcephaly, and has symptoms including myoclonus An important gene associated with Microcephaly-Capillary Malformation Syndrome is STAMBP (STAM Binding Protein). Affiliated tissues include heart, skin and brain, and related phenotypes are vesicoureteral reflux and cleft palate

Genetics Home Reference : 25 Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).

UniProtKB/Swiss-Prot : 75 Microcephaly-capillary malformation syndrome: A congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects.

GeneReviews: NBK174452

Related Diseases for Microcephaly-Capillary Malformation Syndrome

Diseases related to Microcephaly-Capillary Malformation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly 10.4

Symptoms & Phenotypes for Microcephaly-Capillary Malformation Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
optic atrophy

Skeletal Hands:
clinodactyly
brachydactyly
hypoplastic distal phalanges

Head And Neck Nose:
short nose
broad nose

Head And Neck Mouth:
cleft palate

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
patent foramen ovale
right ventricular hypertrophy

Head And Neck Face:
sloping forehead
hypoplastic maxilla

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly, progressive (3 to 8 sd below the mean)

Skin Nails Hair Skin:
capillary malformations, small, multiple, diffuse

Head And Neck Ears:
low-set ears
hearing loss

Growth Other:
failure to thrive
small for gestational age

Growth Height:
short stature

Neurologic Central Nervous System:
myoclonus
cerebral atrophy
delayed myelination
thin corpus callosum
delayed psychomotor development, profound
more
Skeletal Feet:
brachydactyly
hypoplastic distal phalanges
abnormal toe positioning

Skin Nails Hair Nails:
hypoplastic nails

Genitourinary Bladder:
vesicoureteral reflux (1 patient)

Cardiovascular Vascular:
capillary malformations, small, multiple, diffuse

Skin Nails Hair Hair:
abnormal hair whorls


Clinical features from OMIM:

614261

Human phenotypes related to Microcephaly-Capillary Malformation Syndrome:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
2 cleft palate 32 HP:0000175
3 progressive microcephaly 32 HP:0000253
4 hypertelorism 32 HP:0000316
5 hypoplasia of the maxilla 32 HP:0000327
6 sloping forehead 32 HP:0000340
7 hearing impairment 32 HP:0000365
8 low-set ears 32 HP:0000369
9 wide nose 32 HP:0000445
10 ptosis 32 HP:0000508
11 optic atrophy 32 HP:0000648
12 brachydactyly 32 HP:0001156
13 seizures 32 HP:0001250
14 spastic tetraparesis 32 HP:0001285
15 generalized hypotonia 32 HP:0001290
16 myoclonus 32 HP:0001336
17 failure to thrive 32 HP:0001508
18 small for gestational age 32 HP:0001518
19 ventricular septal defect 32 HP:0001629
20 patent foramen ovale 32 HP:0001655
21 right ventricular hypertrophy 32 HP:0001667
22 small nail 32 HP:0001792
23 cerebral atrophy 32 HP:0002059
24 hypoplasia of the corpus callosum 32 HP:0002079
25 short nose 32 HP:0003196
26 short stature 32 occasional (7.5%) HP:0004322
27 short distal phalanx of finger 32 HP:0009882
28 abnormal hair whorl 32 HP:0010721
29 severe global developmental delay 32 HP:0011344
30 delayed myelination 32 HP:0012448
31 clinodactyly 32 HP:0030084

UMLS symptoms related to Microcephaly-Capillary Malformation Syndrome:


myoclonus

Drugs & Therapeutics for Microcephaly-Capillary Malformation Syndrome

Search Clinical Trials , NIH Clinical Center for Microcephaly-Capillary Malformation Syndrome

Genetic Tests for Microcephaly-Capillary Malformation Syndrome

Genetic tests related to Microcephaly-Capillary Malformation Syndrome:

# Genetic test Affiliating Genes
1 Microcephaly-Capillary Malformation Syndrome 29 STAMBP

Anatomical Context for Microcephaly-Capillary Malformation Syndrome

MalaCards organs/tissues related to Microcephaly-Capillary Malformation Syndrome:

41
Heart, Skin, Brain

Publications for Microcephaly-Capillary Malformation Syndrome

Articles related to Microcephaly-Capillary Malformation Syndrome:

# Title Authors Year
1
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome. ( 29907875 )
2018
2
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing. ( 27531570 )
2016
3
The microcephaly-capillary malformation syndrome in two brothers with novel clinical features. ( 25266620 )
2014
4
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. ( 23542699 )
2013
5
Microcephaly-capillary malformation syndrome: a story of rapid emergence of a new recognizable entity. ( 21834052 )
2011
6
The microcephaly-capillary malformation syndrome. ( 21815250 )
2011
7
Microcephaly-Capillary Malformation Syndrome ( 24354023 )
1993

Variations for Microcephaly-Capillary Malformation Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly-Capillary Malformation Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 STAMBP p.Arg14Pro VAR_069806
2 STAMBP p.Arg38Cys VAR_069807 rs143739249
3 STAMBP p.Glu42Gly VAR_069808 rs397509387
4 STAMBP p.Tyr63Cys VAR_069809 rs781694797
5 STAMBP p.Phe100Tyr VAR_069810 rs397514697
6 STAMBP p.Thr313Ile VAR_069811 rs202100019

ClinVar genetic disease variations for Microcephaly-Capillary Malformation Syndrome:

6
(show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 STAMBP NM_006463.5(STAMBP): c.125A> G (p.Glu42Gly) single nucleotide variant Likely pathogenic rs397509387 GRCh37 Chromosome 2, 74058108: 74058108
2 STAMBP NM_006463.5(STAMBP): c.125A> G (p.Glu42Gly) single nucleotide variant Likely pathogenic rs397509387 GRCh38 Chromosome 2, 73830981: 73830981
3 STAMBP NM_201647.3(STAMBP): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs397509388 GRCh37 Chromosome 2, 74074670: 74074670
4 STAMBP NM_201647.3(STAMBP): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs397509388 GRCh38 Chromosome 2, 73847543: 73847543
5 STAMBP NM_201647.3(STAMBP): c.112C> T (p.Arg38Cys) single nucleotide variant Pathogenic rs143739249 GRCh37 Chromosome 2, 74058095: 74058095
6 STAMBP NM_201647.3(STAMBP): c.112C> T (p.Arg38Cys) single nucleotide variant Pathogenic rs143739249 GRCh38 Chromosome 2, 73830968: 73830968
7 STAMBP NM_006463.5(STAMBP): c.279+5G> T single nucleotide variant Likely pathogenic rs397509389 GRCh37 Chromosome 2, 74072020: 74072020
8 STAMBP NM_006463.5(STAMBP): c.279+5G> T single nucleotide variant Likely pathogenic rs397509389 GRCh38 Chromosome 2, 73844893: 73844893
9 STAMBP NM_201647.3(STAMBP): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs397509390 GRCh37 Chromosome 2, 74089381: 74089381
10 STAMBP NM_201647.3(STAMBP): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs397509390 GRCh38 Chromosome 2, 73862254: 73862254
11 STAMBP NM_201647.3(STAMBP): c.299T> A (p.Phe100Tyr) single nucleotide variant Pathogenic rs397514697 GRCh37 Chromosome 2, 74072313: 74072313
12 STAMBP NM_201647.3(STAMBP): c.299T> A (p.Phe100Tyr) single nucleotide variant Pathogenic rs397514697 GRCh38 Chromosome 2, 73845186: 73845186
13 STAMBP NM_201647.2(STAMBP): c.411delC (p.Ile138Serfs) deletion Pathogenic rs886037633 GRCh38 Chromosome 2, 73847422: 73847422
14 STAMBP NM_201647.2(STAMBP): c.411delC (p.Ile138Serfs) deletion Pathogenic rs886037633 GRCh37 Chromosome 2, 74074549: 74074549
15 STAMBP NM_201647.3(STAMBP): c.499G> A (p.Glu167Lys) single nucleotide variant Uncertain significance rs140651555 GRCh37 Chromosome 2, 74074637: 74074637
16 STAMBP NM_201647.3(STAMBP): c.499G> A (p.Glu167Lys) single nucleotide variant Uncertain significance rs140651555 GRCh38 Chromosome 2, 73847510: 73847510
17 STAMBP NM_201647.3(STAMBP): c.1230C> T (p.His410=) single nucleotide variant Uncertain significance rs587784445 GRCh37 Chromosome 2, 74089341: 74089341
18 STAMBP NM_201647.3(STAMBP): c.1230C> T (p.His410=) single nucleotide variant Uncertain significance rs587784445 GRCh38 Chromosome 2, 73862214: 73862214
19 STAMBP NM_201647.3(STAMBP): c.1259_1261delTCA (p.Ile420del) deletion Uncertain significance rs587784446 GRCh37 Chromosome 2, 74089370: 74089372
20 STAMBP NM_201647.3(STAMBP): c.1259_1261delTCA (p.Ile420del) deletion Uncertain significance rs587784446 GRCh38 Chromosome 2, 73862243: 73862245
21 STAMBP NM_201647.3(STAMBP): c.1119-6T> G single nucleotide variant Likely pathogenic rs797046015 GRCh37 Chromosome 2, 74087173: 74087173
22 STAMBP NM_201647.3(STAMBP): c.1119-6T> G single nucleotide variant Likely pathogenic rs797046015 GRCh38 Chromosome 2, 73860046: 73860046
23 STAMBP NM_201647.3(STAMBP): c.106_108delTACinsAA (p.Tyr36Asnfs) indel Pathogenic rs886043494 GRCh37 Chromosome 2, 74058089: 74058091
24 STAMBP NM_201647.3(STAMBP): c.106_108delTACinsAA (p.Tyr36Asnfs) indel Pathogenic rs886043494 GRCh38 Chromosome 2, 73830962: 73830964
25 STAMBP NM_006463.5(STAMBP): c.649C> T (p.Gln217Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 73847660: 73847660
26 STAMBP NM_006463.5(STAMBP): c.649C> T (p.Gln217Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 74074787: 74074787

Expression for Microcephaly-Capillary Malformation Syndrome

Search GEO for disease gene expression data for Microcephaly-Capillary Malformation Syndrome.

Pathways for Microcephaly-Capillary Malformation Syndrome

GO Terms for Microcephaly-Capillary Malformation Syndrome

Sources for Microcephaly-Capillary Malformation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....