IllnessKnorpel-Haar-Hypoplasie-/anauxetische Dysplasie-Spektrum, Differentialdiagnose

Summary

Short information

Comprehensive differential diagnostic panel for the Cartilage-hair hypoplasia /anauxetic dysplasia spectrum comprising 2 or altogether 10 curated genes according to the clinical signs

MP6277

Number of loci

Loci type	Count
Gen	10

Accredited laboratory test

Examined sequence length

3,4 kb (Core-/Core-canditate-Genes)
18,8 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci panel

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
POP1	3075	602486	NM_001145860.2	AR
RMRP	300	157660	NR_003051.3	AR
COL10A1	2043	120110	NM_000493.4	AD
DCLRE1C	2079	605988	NM_001033855.3	AR
NEPRO	1739	617089	NM_015412.4	AR
PTH1R	1782	168468	NM_000316.3	AD, AR
RAG1	3132	179615	NM_000448.3	AR
RAG2	1584	179616	NM_000536.4	AR
RNU4ATAC	130	601428	NR_023343.1	AR
SMARCAL1	2865	606622	NM_001127207.2	AR

Informations about the disease

Clinical Comment

illness_ClinicalComment_MP6277

Synonyms

Alias: Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome
Alias: Knorpel-Haar-Hypoplasie
Alias: Metaphysäre Dysplasie ohne Hypotrichose
Alias: Spondyloepimetaphyseal dysplasia, Menger type (RMRP)
Alias: Spondyloepimetaphyseal dysplasia, anauxetic type
Allelic: Adenosine deaminase deficiency, partial (ADA)
Allelic: Aplastic anemia, susceptibility to (SBDS)
Allelic: Failure of tooth eruption, primary (PTH1R)
Allelic: Neutropenia, severe congenital, XL (WAS)
Allelic: Thrombocytopenia, XL (WAS)
Allelic: Thrombocytopenia, XL, intermittent (WAS)
Anauxetic dysplasia 1 (RMRP)
Anauxetic dysplasia 2 (POP1)
Anauxetic dysplasia 3 (NEPRO)
Aplastic anemia, susceptibility to (SBDS)
Bone marrow failure syndrome 3 (DNAJC21)
Cartilage-hair hypoplasia (RMRP)
Chondrodysplasia, Blomstrand type (PTH1R)
Combined cellular + humoral immune defects with granulomas (RAG1, RAG2)
Combined immunodeficiency, XL, moderate (IL2RG)
Dursun syndrome (G6PC3)
Eiken syndrome (PTH1R)
Immunodeficiency 23 (PGM3)
Immunoskeletal dysplasia with neurodevelopmental abnormalities (EXTL3)
Lowry-Wood syndrome (RNU4ATAC)
Metaphyseal chondrodysplasia, Murk Jansen type (PTH1R)
Metaphyseal chondrodysplasia, Schmid type (COL10A1)
Metaphyseal dysplasia without hypotrichosis (RMRP)
Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
Neutropenia, cyclic (ELANE)
Neutropenia, nonimmune chronic idiopathic, of adults (GFI1)
Neutropenia, severe congenital 1, AD (ELANE)
Neutropenia, severe congenital 2, AD (GFI1)
Neutropenia, severe congenital 3, AR (HAX1)
Neutropenia, severe congenital 4, AR (G6PC3)
Neutropenia, severe congenital, 8, AD (SRP54)
Omenn syndrome (DCLRE1C, RAG1, RAG2)
Roifman syndrome (RNU4ATAC)
Schimke immunoosseous dysplasia (SMARCAL1)
Severe combined immunodeficiency due to ADA deficiency (ADA)
Severe combined immunodeficiency, Athabascan type (DCLRE1C)
Severe combined immunodeficiency, B cell-negative (RAG1, RAG2)
Severe combined immunodeficiency, XL (IL2RG)
Shwachman-Diamond syndrome (SBDS)
Shwachman-Diamond syndrome 1 (SBDS)
Shwachman-Diamond syndrome 2 (EFL1)
Sneddon syndrome (ADA2)
Spondyloenchondrodysplasia with immune dysregulation (ACP5)
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (ADA2)
Wiskott-Aldrich syndrome (WAS)
a/b T-cell lymphopenia with g/d T-cell expansion, severe cytomegalovirus infection, autoimm. (RAG1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined