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The HNRNP-RNDDs are distinct disorders with overlapping clinical traits.

We are an umbrella organization to cover all of the HNRNP-RNDDs. As they have similar mechanisms of disease, it is likely that there are shared therapeutic strategies to uncover.

Fast Facts

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At least
~1 in 22,620 individuals have an
HNRNP-RNDD

There are at least 10 HNRNP-RNDDs, and that number is growing

Individually, each HNRNP-RNDD is ultra rare but together they overcome their ultra rare status

Rare Disease: a disease that is diagnosed in less than 200,000 individuals in the US, or less than
1 in 1000 individuals

Ultra-rare Disease: a disease that is diagnosed in less than 1 in 50,000 individuals

The HNRNP-RNDDs

95%

 

have developmental delay

intellectual disability

71%

 

have speech and language delay and/or difficulties

57%

 

have seizures

55%

 

have motor skills delay

60%

 

have behavioral differences, including autism spectrum disorder, ADHD, and anxiety

40%

 

have differences in brain structure

59%

 

have hypotonia

36%

 

have skeletal differences such as scoliosis and hand/feet anomalies

44%

 

have vision and/or eye problems

65%

 

have distinct facial features, although they vary by HNRNP-RNDD

This data is from Gillentine et al., 2021 and the continuation of that study

Individual HNRNP-RNDDs

The HNRNP-RNDDs are related but distinct disorders. We have color coded them by which are more related to each other.

Heres what we know is different

HNRNPC-RNDD

HNRNPC-RNDD is one of the newest HNRNP-RNDDs described. 

  • Most individuals with HNRNPC-RNDD have a happy demeanor

HNRNPD-RNDD

HNRNPD-RNDD has only been described in one paper.

  • Speech is particularly affected

  • Behavioral differences such as autism spectrum disorder are common

  • Differences in movement (ataxia, poor coodination, dystonia) have been observed

HNRNPG-RNDD

hnRNPG variants result in Shashi-related intellectual disability, which has only been described in a few families. The disorder is X-linked and only affects males (who have one copy of the X chromosome).

  • Many have short stature 

  • Hearing is often affected

  • There are shared differences in facial features

HNRNPH1-RNDD

HNRNPH1-RNDD has multiple papers published on it. 

  • Growth delay is common

  • Speech is particularly affected

  • MRI abnormalities are common

  • Vision and eye issues are common

  • Differences in facial features are common

HNRNPH2-RNDD

HNRNPH2-RNDD is also known as Bain-type intellectual disability. Mostly girls are affected, but a small number of boys have been reported. 

  • Many individuals have genetic variants that impact the same part of the protein

  • Growth delay is observed in many individuals

  • Speech and motor skills are significantly affected

  • Behavioral differences are common, including autism spectrum disorder, anxiety, and hyperacusis

  • Vision issues are common

  • There are consistent facial features

HNRNPK-RNDD

Variants in HNRNPK cause Au-Kline Syndrome. 

  • There are distinct facial features observed in many individuals with Au-Kline Syndrome.

  • Skeletal differences, including scoliosis, are common

  • ~20% of cases have craniosynostosis

  • Congenital hip dysplasia is common

  • Many individuals have heart issues

HNRNPR-RNDD

HNRNPR-RNDD has been in two publications.

  • Many individuals have growth delay

  • Many have behavioral differences, such as autism spectrum disorder and attention deficit hyperactivity disorder

  • Skeletal differences have been reported, such as scoliosis or hand and feet differences such as clinodactyly

  • There are not specific facial features, but many individual have differences in ear structure, and microcephaly is common

  • Cardiac issues are reported in half of cases

HNRNPQ-RNDD

HNRNPQ/SYNCRIP-RNDD has been in multiple publications. 

  • Most individuals have speech and/or language delay, and many are nonverbal

  • Behavioral differences such as autism spectrum disorder are common

HNRNPU-RNDD

HNRNPU-RNDD is fairly well characterized, with several publications. 

  • Seizures are reported in almost all cases

  • Speech and language delay is common

HNRNPUL2-RNDD

HNRNPUL2-RNDD has only one publication. 

  • Growth delay is common

  • Both speech and motor skills are delayed

  • Behavioral differences such as autism spectrum disorder and ADHD are common

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