SHNKND
MCID: SCH030
MIFTS: 44

Schneckenbecken Dysplasia (SHNKND)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Schneckenbecken Dysplasia

MalaCards integrated aliases for Schneckenbecken Dysplasia:

Name: Schneckenbecken Dysplasia 57 12 20 58 73 36 29 13 6 44 15 71
Chondrodysplasia, Lethal Neonatal, with Snail-Like Pelvis 57 73
Shnknd 57 73
Chondrodysplasia Lethal Neonatal with Snail Like Pelvis 20
Chondrodysplasia with Snail-Like Pelvis 58
Dysplasia, Schneckenbecken 39
Slc35d1-Cdg 58

Characteristics:

Orphanet epidemiological data:

58
schneckenbecken dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: embryofetal,stillbirth;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
stillborn or lethal in the neonatal period


HPO:

31
schneckenbecken dysplasia:
Onset and clinical course stillbirth
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050775
OMIM® 57 269250
KEGG 36 H00474
MESH via Orphanet 45 C536637
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 72 C0432194
Orphanet 58 ORPHA3144
MedGen 41 C0432194
UMLS 71 C0432194

Summaries for Schneckenbecken Dysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3144DefinitionSchneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.EpidemiologyLess than 20 cases have been reported in the literature so far.Clinical descriptionThe typical radiographic finding is the snail-like configuration of the hypoplastic iliac bone. Additional features include flattened hypoplastic vertebral bodies, short ribs, short and wide fibulae, short and broad long bones with a dumbbell-like appearance, and precocious ossification of the tarsus.EtiologyThis syndrome is caused by loss-of-function mutations of the SLC35D1 gene (1p32-p31)Genetic counselingSchneckenbecken dysplasia is transmitted in an autosomal recessive manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Schneckenbecken Dysplasia, also known as chondrodysplasia, lethal neonatal, with snail-like pelvis, is related to skeletal dysplasias and fibrochondrogenesis. An important gene associated with Schneckenbecken Dysplasia is SLC35D1 (Solute Carrier Family 35 Member D1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of vitamins, nucleosides, and related molecules. Affiliated tissues include bone, and related phenotypes are macrocephaly and short neck

Disease Ontology : 12 An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has material basis in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31.

OMIM® : 57 Schneckenbecken dysplasia is a perinatally lethal skeletal dysplasia. The German term 'Schneckenbecken' refers to the distinctive, snail-like appearance of the ilia that results from a medial bone projection from the inner iliac margin. Other hallmarks of the disorder include thoracic hypoplasia, severe flattening of the vertebral bodies, and short, thick long bones (summary by Hiraoka et al., 2007). (269250) (Updated 05-Mar-2021)

KEGG : 36 Schneckenbecken dysplasia is a severe skeletal dysplasia that leads to perinatal death. The characteristic is the snail-like configuration of the hypoplastic iliac bones. Patients also have limbs with extremely short long bones and flat vertebratal bodies. Loss-of-function mutations in SLC35D1 gene impair the transporter activity of nucleotide sugars in Schneckenbecken dysplasia. The disease is inherited as an autosomal recessive trait.

UniProtKB/Swiss-Prot : 73 Schneckenbecken dysplasia: A rare, lethal autosomal recessive skeletal dysplasia characterized by snail-like configuration of the hypoplastic iliac bone, short-limbed dwarfism, short ribs, and flattened, hypoplastic vertebral bodies. SHNKND is lethal in the neonatal period.

Related Diseases for Schneckenbecken Dysplasia

Diseases related to Schneckenbecken Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 skeletal dysplasias 29.7 SLC26A2 COL11A2
2 fibrochondrogenesis 29.5 TRIP11 SLC35D1 COL11A2 COL11A1
3 odontochondrodysplasia 28.8 TRIP11 SLC35D1 SLC26A2 EXTL3 COL11A2 COL11A1
4 dwarfism 10.3
5 achondrogenesis, type ia 10.2 TRIP11 SLC26A2
6 congenital disorder of glycosylation, type iik 10.2 SLC35C1 SLC35A3
7 atelosteogenesis 10.2 SLC35D1 SLC26A2
8 immunodeficiency 23 10.2 SLC35C1 SLC35A3
9 congenital disorder of glycosylation, type iim 10.2 SLC35A3 SLC35A1
10 fructose intolerance, hereditary 10.2 SLC35C1 SLC35A3
11 congenital disorder of glycosylation, type iid 10.2 SLC35C1 SLC35A1
12 thanatophoric dysplasia, type i 10.2
13 congenital disorder of glycosylation, type iib 10.1 SLC35C1 SLC35A1
14 spondylocarpotarsal synostosis syndrome 10.1 TRIP11 SLC35D1 SLC26A2
15 congenital disorder of glycosylation, type iia 10.1 SLC35C1 SLC35A1
16 congenital disorder of glycosylation, type iif 10.1 SLC35C1 SLC35A3 SLC35A1
17 spondyloepimetaphyseal dysplasia, strudwick type 10.0
18 spondylometaphyseal dysplasia, sedaghatian type 10.0
19 opsismodysplasia 10.0
20 lethal chondrodysplasia 10.0
21 congenital disorder of glycosylation, type in 10.0 SLC35C1 SLC35A3 SLC35A1
22 larsen syndrome 10.0 SLC35D1 SLC26A2
23 omodysplasia 10.0 SLC26A2 EXTL3
24 kohler's disease 9.9 COL11A2 COL11A1
25 autosomal recessive stickler syndrome 9.9 COL11A2 COL11A1
26 vitreous syneresis 9.9 COL11A2 COL11A1
27 fibrochondrogenesis 1 9.9 COL11A2 COL11A1
28 otospondylomegaepiphyseal dysplasia, autosomal recessive 9.9 COL11A2 COL11A1
29 retinal perforation 9.9 COL11A2 COL11A1
30 congenital disorder of glycosylation, type ie 9.8 SLC35C1 SLC35A1
31 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.8 COL11A2 COL11A1
32 cleft soft palate 9.8 COL11A2 COL11A1
33 kniest dysplasia 9.8 SLC35D1 COL11A2 COL11A1
34 marshall syndrome 9.8 COL11A2 COL11A1
35 achondrogenesis, type ii 9.7 SLC26A2 COL11A2 COL11A1
36 spondyloepiphyseal dysplasia with congenital joint dislocations 9.7 SLC26A2 COL11A2 COL11A1
37 multiple epiphyseal dysplasia 9.7 SLC26A2 COL11A2 COL11A1
38 spinal stenosis 9.7 COL11A2 COL11A1
39 achondrogenesis 9.3 TRIP11 SLC35D1 SLC26A2 PAM16 COL11A2 COL11A1

Graphical network of the top 20 diseases related to Schneckenbecken Dysplasia:



Diseases related to Schneckenbecken Dysplasia

Symptoms & Phenotypes for Schneckenbecken Dysplasia

Human phenotypes related to Schneckenbecken Dysplasia:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0001004
4 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
5 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
6 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
7 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
8 disproportionate short-limb short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0008873
9 hypoplastic scapulae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000882
10 hypoplastic vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0008479
11 fibular hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003038
12 short ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000773
13 hypoplastic ilia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000946
14 lateral clavicle hook 58 31 hallmark (90%) Very frequent (99-80%) HP:0000895
15 increased fibular diameter 58 31 hallmark (90%) Very frequent (99-80%) HP:0012107
16 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
17 hypoplastic toenails 58 31 frequent (33%) Frequent (79-30%) HP:0001800
18 abnormal fingernail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001231
19 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
20 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
21 diaphyseal thickening 58 31 occasional (7.5%) Occasional (29-5%) HP:0005019
22 accelerated skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005616
23 dumbbell-shaped long bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0000947
24 advanced tarsal ossification 58 31 occasional (7.5%) Occasional (29-5%) HP:0008108
25 abnormality of the metaphysis 58 Very frequent (99-80%)
26 ovoid vertebral bodies 31 HP:0003300
27 abnormal form of the vertebral bodies 58 Very frequent (99-80%)
28 brachydactyly 31 HP:0001156
29 midface retrusion 31 HP:0011800
30 anterior rib cupping 31 HP:0000907
31 flat acetabular roof 31 HP:0003180
32 metaphyseal irregularity 31 HP:0003025
33 advanced ossification of carpal bones 31 HP:0004233
34 snail-like ilia 31 HP:0031026

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Neck:
short neck

Skeletal Hands:
brachydactyly
precociously ossified carpal bones

Chest External Features:
narrow chest

Head And Neck Face:
flat midface

Head And Neck Head:
large head

Skeletal Spine:
round vertebral bodies
sacral stenosis

Skeletal Feet:
precociously ossified tarsal bones

Head And Neck Mouth:
cleft palate

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapulae
short, splayed ribs
hook-shaped clavicles

Skeletal Pelvis:
flat acetabular roofs
snail-shaped ilia

Growth Height:
dwarfism, micromelic

Skeletal Limbs:
dumbbell-shaped short long bones
metaphyseal irregularities

Prenatal Manifestations Delivery:
stillborn or lethal in the neonatal period

Clinical features from OMIM®:

269250 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Schneckenbecken Dysplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.1 C1orf141 COL11A1 SLC35A1 SLC35B3 SLC35C1 SLC35D1

MGI Mouse Phenotypes related to Schneckenbecken Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 COL11A1 COL11A2 INPPL1 SLC26A2 SLC35D1 TRIP11
2 growth/size/body region MP:0005378 9.32 COL11A1 COL11A2 EXTL3 INPPL1 MIER1 SBDS

Drugs & Therapeutics for Schneckenbecken Dysplasia

Search Clinical Trials , NIH Clinical Center for Schneckenbecken Dysplasia

Cochrane evidence based reviews: schneckenbecken dysplasia

Genetic Tests for Schneckenbecken Dysplasia

Genetic tests related to Schneckenbecken Dysplasia:

# Genetic test Affiliating Genes
1 Schneckenbecken Dysplasia 29 SLC35D1

Anatomical Context for Schneckenbecken Dysplasia

MalaCards organs/tissues related to Schneckenbecken Dysplasia:

40
Bone

Publications for Schneckenbecken Dysplasia

Articles related to Schneckenbecken Dysplasia:

(show all 19)
# Title Authors PMID Year
1
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. 61 6 57
19508970 2009
2
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. 6 61 57
17952091 2007
3
Schneckenbecken dysplasia, radiology, and histology. 61 57
11200994 2001
4
A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia. 61 57
3799723 1986
5
"Snail-like pelvis" chondrodysplasia: a further case report. 57
1746621 1991
6
A new category of lethal short-limbed dwarfism. 57
3799722 1986
7
Family with probable achondrogenesis and lipid inclusions in fibroblasts. 57
4120916 1973
8
Familial recurring thanatophoric dwarfism. A case report. 57
4553206 1972
9
Familial thanatophoric dwarfism. 57
4103426 1971
10
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia. 61
31423530 2019
11
Molecular asymmetry in the 8-cell stage Xenopus tropicalis embryo described by single blastomere transcript sequencing. 61
26100918 2015
12
A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). 61
25997753 2015
13
Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation. 61
24051442 2013
14
[Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases]. 61
19522446 2009
15
Schneckenbecken dysplasia in fetus: report of four cases. 61
19407457 2009
16
Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia. 61
15386610 2004
17
Metatropic dysplasia lethal variants. 61
14566438 2004
18
Case report 870. Schneckenbecken dysplasia, possibly a new variant. 61
7824994 1994
19
Case report 693: Schneckenbecken dysplasia. 61
1754916 1991

Variations for Schneckenbecken Dysplasia

ClinVar genetic disease variations for Schneckenbecken Dysplasia:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC35D1 SLC35D1, 1-BP DEL, 125A Deletion Pathogenic 1123
2 SLC35D1 NM_015139.3(SLC35D1):c.932G>A (p.Trp311Ter) SNV Pathogenic 1124 rs137853111 1:67474795-67474795 1:67009112-67009112
3 SLC35D1 NM_015139.3(SLC35D1):c.636+1G>T SNV Pathogenic 1125 rs1570643880 1:67512947-67512947 1:67047264-67047264
4 SLC35D1 NM_015139.3(SLC35D1):c.319C>T (p.Arg107Ter) SNV Pathogenic 1126 rs267607063 1:67518459-67518459 1:67052776-67052776
5 SLC35D1 NM_015139.3(SLC35D1):c.392+3A>G SNV Pathogenic 1127 rs369408014 1:67517692-67517692 1:67052009-67052009
6 SLC35D1 SLC35D1, 4.9-KB DEL, EX7 Deletion Pathogenic 1128
7 SLC35D1 NM_015139.3(SLC35D1):c.193A>C (p.Thr65Pro) SNV Pathogenic 1129 rs267607062 1:67519504-67519504 1:67053821-67053821
8 SLC35D1 NM_015139.3(SLC35D1):c.40G>A (p.Gly14Arg) SNV Uncertain significance 530927 rs1553268935 1:67519657-67519657 1:67053974-67053974
9 SLC35D1 NM_015139.3(SLC35D1):c.301C>T (p.Leu101Phe) SNV Uncertain significance 642827 rs145382776 1:67518477-67518477 1:67052794-67052794
10 SLC35D1 NM_015139.3(SLC35D1):c.508A>G (p.Ile170Val) SNV Uncertain significance 661129 rs1407589659 1:67515490-67515490 1:67049807-67049807
11 SLC35D1 NM_015139.3(SLC35D1):c.836A>G (p.Tyr279Cys) SNV Uncertain significance 662949 rs199585658 1:67486092-67486092 1:67020409-67020409
12 SLC35D1 NM_015139.3(SLC35D1):c.526G>T (p.Ala176Ser) SNV Uncertain significance 845566 1:67515472-67515472 1:67049789-67049789
13 SLC35D1 NM_015139.3(SLC35D1):c.712A>G (p.Thr238Ala) SNV Uncertain significance 856165 1:67507936-67507936 1:67042253-67042253
14 SLC35D1 NM_015139.3(SLC35D1):c.84G>C (p.Glu28Asp) SNV Uncertain significance 965733 1:67519613-67519613 1:67053930-67053930
15 SLC35D1 NM_015139.3(SLC35D1):c.891_892del (p.Ile299fs) Deletion Uncertain significance 967179 1:67474835-67474836 1:67009152-67009153
16 SLC35D1 NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr) SNV Likely benign 440280 rs143218310 1:67486114-67486114 1:67020431-67020431
17 SLC35D1 NM_015139.3(SLC35D1):c.813C>T (p.Tyr271=) SNV Likely benign 734963 rs372859338 1:67486115-67486115 1:67020432-67020432
18 SLC35D1 NM_015139.3(SLC35D1):c.159C>G (p.Ser53=) SNV Likely benign 752714 rs756375250 1:67519538-67519538 1:67053855-67053855
19 SLC35D1 NM_015139.3(SLC35D1):c.660C>G (p.Leu220=) SNV Likely benign 811263 rs1277339639 1:67507988-67507988 1:67042305-67042305
20 SLC35D1 NM_015139.3(SLC35D1):c.730-8T>C SNV Benign 709549 rs138429988 1:67487293-67487293 1:67021610-67021610

Expression for Schneckenbecken Dysplasia

Search GEO for disease gene expression data for Schneckenbecken Dysplasia.

Pathways for Schneckenbecken Dysplasia

Pathways related to Schneckenbecken Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 SLC35D1 SLC35C1 SLC35B3 SLC35A3 SLC35A1 SLC26A2

GO Terms for Schneckenbecken Dysplasia

Cellular components related to Schneckenbecken Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.65 TRIP11 SLC35C1 SLC35B3 SLC35A3 SLC35A1
2 integral component of Golgi membrane GO:0030173 9.33 SLC35B3 SLC35A3 SLC35A1
3 Golgi apparatus GO:0005794 9.23 TRIP11 SLC35D1 SLC35C1 SLC35B3 SLC35A3 SLC35A1
4 collagen type XI trimer GO:0005592 8.96 COL11A2 COL11A1

Biological processes related to Schneckenbecken Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.58 SLC26A2 PAM16 COL11A1
2 cartilage development GO:0051216 9.54 TRIP11 COL11A2 COL11A1
3 skeletal system morphogenesis GO:0048705 9.43 COL11A2 COL11A1
4 UDP-N-acetylglucosamine transmembrane transport GO:1990569 9.32 SLC35D1 SLC35A3
5 pyrimidine nucleotide-sugar transmembrane transport GO:0090481 9.26 SLC35A3 SLC35A1
6 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process GO:0050428 9.16 SLC35B3 SLC26A2
7 UDP-galactose transmembrane transport GO:0072334 8.96 SLC35A3 SLC35A1
8 carbohydrate transport GO:0008643 8.92 SLC35D1 SLC35C1 SLC35A3 SLC35A1

Molecular functions related to Schneckenbecken Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 9.43 SLC35D1 SLC35C1 SLC35A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.32 COL11A2 COL11A1
3 pyrimidine nucleotide-sugar transmembrane transporter activity GO:0015165 9.16 SLC35A3 SLC35A1
4 UDP-N-acetylglucosamine transmembrane transporter activity GO:0005462 8.96 SLC35D1 SLC35A3
5 UDP-galactose transmembrane transporter activity GO:0005459 8.62 SLC35A3 SLC35A1

Sources for Schneckenbecken Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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