Warning: The NCBI web site requires JavaScript to function. more...

Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Spermatogenic failure 19(SPGF19)

MedGen UID:: 1614356
•Concept ID:: C4539818
•: Disease or Syndrome

Synonyms:	SPERMATOGENIC FAILURE 19; SPGF19

Gene (location): Gene(s) directly associated with this condition or phenotype.	CFAP43 (10q25.1)

Monarch Initiative:	MONDO:0054723
OMIM®:	617592

Definition

Spermatogenic failure-19 is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella (Tang et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Clinical features

From HPO

Male infertility

MedGen UID:: 5796
•Concept ID:: C0021364
•: Disease or Syndrome

The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.

See: Feature record | Search on this feature

Reduced sperm motility

MedGen UID:: 98339
•Concept ID:: C0403823
•: Disease or Syndrome

An abnormal reduction in the mobility of ejaculated sperm.

See: Feature record | Search on this feature

Absent sperm flagella

MedGen UID:: 1623855
•Concept ID:: C4539786
•: Finding

Sperm cells lacking flagella.

See: Feature record | Search on this feature

Short sperm flagella

MedGen UID:: 1623693
•Concept ID:: C4539787
•: Finding

Sperm cells with abnormally short flagella.

See: Feature record | Search on this feature

Coiled sperm flagella

MedGen UID:: 1611216
•Concept ID:: C4539789
•: Finding

Sperm cells whose flagella are twisted (coiled).

See: Feature record | Search on this feature

Abnormality of the genitourinary system

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

ClinVar
Related medical variations
Gene
Related information in NCBI Gene
GTR
Related information in GTR
GTR(Clinical)
Clinical tests in GTR
OMIM
Related records in OMIM
OMIM(Genes)
OMIM records containing genes associated with phenotypes registered in MedGen

Recent activity

Clear Turn Off Turn On

Spermatogenic failure 19
Spermatogenic failure 19

MedGen

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...